Shows
On One ConditionEpisode 67: Robert Hay - HaemophiliaRob shares his personal journey growing up with severe haemophilia A, a rare bleeding disorder. Diagnosed as a baby due to family history, Rob and his brothers inherited the condition from their mother, who is a carrier of a mutated gene leading to haemophilia. His story spans from childhood limitations, frequent injections, and a sense of isolation, to the profound impact a life-changing treatment can have. Rob also reflects on what it means to work in clinical research while being directly impacted by its advances. This episode is a compelling testament to resilience, progress in medicine, and the hope...2025-07-1631 min
On One ConditionEpisode 66: Taylor Coffman - aHUSTaylor shares her traumatic and transformative journey of being diagnosed with a rare condition – atypical hemolytic uremic syndrome (aHUS) – triggered during childbirth. Her story is one of medical chaos, survival against all odds, and learning to mother through unimaginable obstacles. With grace and humour, Taylor opens up about the physical devastation of her illness, the emotional toll of being separated from her newborn daughter, and the importance of timely diagnosis and innovative treatments. She also reflects on how becoming a patient changed her relationship with vulnerability, resilience, and advocacy.The song Taylor chose is Be (For July) by D...2025-07-0237 min
On One ConditionEpisode 65: Kevin Alexander - PKUKevin opens up about living with PKU, a rare metabolic condition diagnosed at birth that requires lifelong dietary management. As a passionate advocate and storyteller, Kevin walks us through his journey, from early challenges of growing up with a restrictive diet to becoming a global voice for the PKU community. The conversation dives into mental health, feelings of isolation, access disparities in healthcare, and the healing power of music and connection. Kevin’s vulnerability and perspective offer not just education, but comfort to others navigating rare diseases.The song that Kevin chose is Shadow Days by John Ma...2025-06-1833 min
On One ConditionEpisode 64: Kristina Morgan & Sana Ansari- Type 1 DiabetesA first on the podcast, Sylvain welcomes two guests, Kristina Morgan and Sana Ansari, both living with Type 1 Diabetes. They each have a very different journey with the condition: Kristina was diagnosed at age 7, while Sana received her diagnosis at 38, during the peak of the COVID-19 pandemic.Their conversation is both heart-opening and educational, shedding light on what it's truly like to live a "prescribed life" and how chronic illness reshapes relationships, routines, and self-perception.The episode explores the emotional landscape of diabetes, from the guilt around food choices to the fear of unpredictable lows...2025-06-0439 min
On One ConditionEpisode 63: Sarita Edwards - Trisomy 18In this moving episode, I speak with Sarita Edwards, a mother, advocate, and founder of the E.WE Foundation, about her family's journey after her son Elijah was diagnosed with Trisomy 18 (Edwards syndrome). Sarita shares the emotional rollercoaster of receiving Elijah’s diagnosis at 22 weeks pregnant, the constant message of hopelessness delivered by healthcare professionals, and the overwhelming fear of loss that followed. Sarita explains how she fought this fear with hope and love, sharing a strong message of resilience.Elijah, now eight years old, defies all medical expectations. Sarita’s deep reflections explore how grief, uncertainty, and...2025-05-2142 min
On One ConditionEpisode 62: Barbara Williamson - SepsisBarbara shares her extraordinary journey through unimaginable challenges, from a discovery of multiple myeloma to a stem cell transplant, induced coma, severe sepsis, and ultimately the life-altering experience of a double amputation. Despite the harrowing experiences, Barbara’s story radiates incredible resilience, hope, and positivity.She speaks candidly about moments of darkness, vivid dreams during her coma, waking to devastating news, and rebuilding her life physically, emotionally, and spiritually. Her journey is an inspiring reminder that, even when life as you knew it changes forever, it’s still possible to live fully and gratefully.Barbara’s stre...2025-05-0729 min
On One ConditionEpisode 61: MaryAnn Bowman - CRPS & GastroparesisMaryAnn opens up with honesty about her daily life with Complex Regional Pain Syndrome (CRPS) and Gastroparesis. She shares how a fall in the bathroom spiralled into a life-altering condition that left her unable to walk, in relentless pain, and dismissed by multiple healthcare professionals. Despite visible healing on scans, she was battling invisible agony.We discuss the different ways MaryAnn manages her condition, with music therapy, strict routines, soft textures, and self-advocacy. We also talk about how she found a lifeline in ketamine therapy, a controversial yet transformative treatment that helped her regain mobility and her...2025-04-2342 min
On One ConditionEpisode 60: Duncan Passmore - Pearson SyndromeThis is the deeply moving story of Duncan and his son Torin, who battled Pearson Syndrome, a rare mitochondrial disease. With raw honesty, Duncan shares the journey of loving, raising, and ultimately saying goodbye to his son, revealing not only the heartbreak but also the enduring love and strength that shapes his family's life today. We talk about how they navigated an unpredictable and devastating diagnosis, and how it led the family to cherish every moment.Now, in his son’s memory, Duncan is building a wooden sailing boat, fulfilling Torin’s dream of sailing to Wildcat Isla...2025-04-0941 min
On One ConditionEpisode 59: Dwayne Wilson - Pompe DiseaseDwayne shares his journey of living with Pompe disease, a rare genetic condition also known as acid-maltase disease or glycogen storage disease type II. He opens up about how the condition changed his mindset, and his new mantra: enjoy life to the fullest. It drives his story, as he recounts navigating his diagnosis, participating in a clinical trial, and advocating for awareness. He emphasizes how finding a supportive community and maintaining positivity shaped his relationship with Pompe. This discussion is filled with resilience, humour, and an unwavering commitment to life despite challenges.The song that Dwayne chose...2025-03-2637 min
On One ConditionEpisode 58: Kelly Kearley - PTEN Hamartoma Tumour SyndromeKelly is the mother of Austin, a teenager with PTEN-Hamartoma Tumor Syndrome. She shares her profound journey of navigating life as a parent of a child with a rare disease, battling the healthcare system, and finding joy in small, everyday moments. Kelly’s story highlights both the struggles and triumphs of caregiving, offering insights into navigating the medical system, managing mental health, and finding a new normal. Through resilience, advocacy, and self-discovery, she has turned her challenges into a mission to support others in the PTEN community.The song that Kelly chose is Stronger by Kelly Clarkson.2025-03-1238 min
On One ConditionEpisode 57: Jan Steele - Celiac DiseaseJan was diagnosed with celiac disease at just three years old. She shares her experiences, from childhood challenges to her current work in France, where she runs a gluten-free teaching kitchen. Through the conversation, Jan illustrates how celiac disease is not a limitation but an opportunity to embrace a mindful, health-oriented lifestyle. She offers practical advice, like focusing on whole foods and learning to cook from scratch, while also advocating for better awareness in restaurants and among healthcare professionals. Her positivity shines through her words, offering encouragement to anyone navigating similar journeys.The song that Jan selected...2025-02-2642 min
On One ConditionEpisode 56: Jenny Jones - Familial Adenomatous PolyposisJenny recounts a deeply personal story of struggles, courage and self-discovery, as she looks back on her battle with Familial Adenomatous Polyposis (FAP). A traumatic surgery experience had an extremely negative impact on Jenny's mental health, leading to a childhood marked by medical PTSD and deep depression. Through heartfelt dialogue, Jenny shares her journey of diagnosis, advocacy, and acceptance. She has transformed her struggles into a mission to improve lives through awareness and research.The song that Jenny selected is Sound of Madness by Shinedown.2025-02-1234 min
On One ConditionEpisode 55: Laura Will - PolymicrogyriaLaura shares her experience as the mother of Alden, a child living with polymicrogyria, a rare brain malformation. With striking honesty, she speaks to the challenges, unexpected joys, and the lessons she's learned about resilience and acceptance. Laura’s narrative illustrates the struggles of parenting a medically complex child, from grappling with sleep deprivation to fighting for appropriate resources in the school system. Yet, through it all, her unwavering love for Alden and her fierce advocacy for his dignity and well-being shine through. The song Laura chose is What a Wonderful World by Louis Armstrong.2025-01-2938 min
On One ConditionEpisode 54: Joanne Paquette - Ollier's DiseaseOllier's disease has shaped Joanne's life since infancy. Her story is one of resilience, adaptation, and hope, as she recounts the challenges of undergoing numerous surgeries, navigating family dynamics, and finding ways to thrive despite her condition. Our conversation dives into Joanne's work as the founder of RAREsies, her mission to support those with rare diseases, and her advocacy for education and awareness. Through her words, Joanne radiates a spirit of determination and a belief in the power of human connection. As she shares her struggles and triumphs, she offers profound insights into living with a rare disease and...2025-01-1535 min
On One ConditionEpisode 53: Jocelyn Wong - Morquio SyndromeJocelyn shares about living with Morquio Syndrome, a rare skeletal disorder. Her journey started in Hong Kong, where she spent part of her childhood, before moving to the US. Jocelyn reflects on the different approach to medicine between both countries, which partly led her to become a writer and patient advocate. She shares her struggles and triumphs, shedding light on a condition many may not understand. Her candid discussion highlights her resilience, the value of medical advancements, and her hope to inspire others.The song that Jocelyn chose is Silence is Golden by Leslie Cheung.2025-01-0122 min
On One ConditionEpisode 52: Chris Velona - Batten Disease CLN8Chris shares the profound journey of raising his son, Sebastian, who has Batten disease CLN8. He reflects on the bittersweet experiences of witnessing Sebastian’s once-vibrant abilities erode under the weight of this rare, degenerative condition. Chris shares his constant search for new therapies that can help reduce the frequency of his son's seizures. We also talk about his fund-raising for clinical research and the lack of appetite from pharmaceutical companies to treat his son's rare condition. The song that Chris chose is Tiny Dancer by Elton John. 2024-12-1837 min
On One ConditionEpisode 51: Andrea Sinclair - Polyglandular Autoimmune SyndromeAndrea shares her journey with Polyglandular Autoimmune Syndrome (PAS) and its complex challenges. Her story spans a life shaped by resilience and a relentless pursuit of better health outcomes, offering invaluable insights into living with rare, chronic conditions. Andrea speaks candidly about her experience, including her battles with diabetes, adrenal complications, and the transformative impact of receiving islet cell transplants. Her optimism and strength shine as she recounts triumphs over immense challenges. The song that Andrea chose is Higher Ground by Stevie Wonder.2024-12-0439 min
On One ConditionEpisode 50: Jen Cueva - Pulmonary HypertensionJen shares her journey with pulmonary arterial hypertension (PAH), a condition marked by high blood pressure in the lungs, which severely affects her daily life. She recounts her initial symptoms, eventual diagnosis, and the physical and mental challenges that followed. As a former hospice nurse and caregiver, Jen reflects on her transition to patient, detailing the emotional impact of her increasing dependence on others. She is now an advocate for those with PAH and rare diseases, working to raise awareness and connect people to clinical trials and support networks.The song that Jen selected is The Climb...2024-11-2031 min
On One ConditionEpisode 49: Kerri Mauer - Myasthenia GravisKerri lives with Myasthenia Gravis (MG), a rare autoimmune condition that has turned her life upside down. Through profound reflections, she shares the multifaceted impact of MG on her life, touching on themes of resilience, loss, and gratitude. Kerri describes the strength required to live with an “invisible disability” and the journey to reframe her life around moments of beauty and simplicity. This discussion with Kerri feels like a journey in itself, filled with wisdom and warmth.The song that Kerri chose is Both Sides Now by Joni Mitchell. 2024-11-0648 min
On One ConditionEpisode 48: Daniel DeFabio - Menkes DiseaseIn this heartfelt episode, Daniel opens up about his journey with his son, Lucas, who was diagnosed with Menkes disease, a rare genetic disorder. Daniel shares the emotional challenges, personal growth, and love that shaped his family's experience. He discusses the need to adjust expectations as a parent, from the small things like waiting nine years for Lucas to grab his finger, to facing the reality that Lucas' life would be short. The podcast touches on the emotional rollercoaster of caring for a child with a life-limiting illness, but also celebrates the joy Lucas brought to their lives. Daniel’s...2024-10-2336 min
On One ConditionEpisode 47: Erin Paterson - Huntington's DiseaseErin opens up about discovering Huntington's disease in her family when she was in her early 30s. She talks about her father and how his outbursts and behavioral changes, often misunderstood, were early signs of the disease. Erin reflects on her own diagnosis, the emotional burden of being gene-positive, and the delicate task of caregiving while also being a mother. We also talk about Erin’s passion for writing and storytelling, particularly her books, which focus on HD, rare diseases, and patient advocacy. She emphasizes the power of storytelling in the HD community, giving a voice to patients, caregivers, an...2024-10-0934 min
On One ConditionEpisode 46: Mike Davies - EczemaMike discusses his lifelong battle with eczema and recent struggles with suspected topical steroid withdrawal (TSW). After being prescribed steroid creams in 2021, Mike found that using it months apart worsened his flare-ups. Eventually, he stopped using the creams, which led to severe symptoms affecting his entire body. Mike shares the physical and emotional challenges of living with eczema, and the importance of self-advocacy and alternative approaches to treatment. Through his voice, he hopes others will consider ways of managing eczema before moving on to treatments such as steroid creams. The song that Mike selected is Everybody breaks b...2024-09-2535 min
On One ConditionEpisode 45: Sierra Phillips - Warsaw Breakage SyndromeIn this emotional episode of the podcast, Sierra speaks about her journey as a mother to Jack, who was diagnosed with the ultra-rare Warsaw Breakage Syndrome. She opens up about the complexities of Jack’s medical challenges, including a congenital heart defect, microcephaly, and severe growth restriction, all of which were discovered early in her pregnancy. Sierra emphasizes the importance of trusting her instincts and being Jack’s fiercest advocate in a healthcare system that often left her feeling overwhelmed. She turned her experience into action by creating Librarey, sharing what she learned to help parents in similar situations. ...2024-09-1141 min
On One ConditionEpisode 44: Jamie Nicole - Hashimoto's DiseaseJamie shares her experience living with Hashimoto's disease, an autoimmune condition affecting the thyroid. She talks about how her symptoms, such as fatigue and joint pain, were often dismissed as normal, leading to a delayed diagnosis. We talk about how difficult it was for her to find a treatment for her narcolepsy, due to the lack of diversity in clinical trials. Jamie also shares how medication shortages are affecting her and others, and how dire the situation is in the US. Jamie is an advocate for more education about chronic illnesses, particularly in recognizing symptoms in children, and she...2024-08-2846 min
On One ConditionEpisode 43: John Muller - Inclusion Body MyositisJohn lives with inclusion body myositis (IBM), a rare muscle-wasting disease. He shares how his symptoms, such as difficulty climbing stairs and playing guitar, were initially mistaken for aging, and later led to a misdiagnosis of ALS. He describes the emotional impact of living with a rare disease, the challenges of receiving an accurate diagnosis, and the frustration of the limited treatment options available for IBM. Despite these challenges, John remains committed to raising awareness and advocating for research to improve the lives of those affected by IBM and other rare diseases.The song that John selected...2024-08-1441 min
On One ConditionEpisode 42: Ray Huml - FSHDBoth Ray's children were born with FSHD (Facioscapulohumeral Muscular Dystrophy), a common yet lesser-known form of muscular dystrophy. He discusses the challenges they face daily, such as muscle weakness and limited mobility. Ray highlights the importance of the patient voice in understanding and treating rare diseases, drawing from his professional experience in the rare disease sector and his role as a father. He also touches on the role of community support and the ongoing need for research to better understand and combat FSHD and other rare diseases.The song that Ray chose is SPACES, a song written...2024-07-3140 min
On One ConditionEpisode 41: Megan Starshak - Ulcerative ColitisMegan was diagnosed with ulcerative colitis at 18 years old. Although she was diagnosed relatively quickly, what followed was a 6-year battle to find a doctor that would give her the attention she deserved. During that time, her quality of life went downhill, losing the ability to practice the sports she loved and losing some friends along the way. We discuss the voice of the patient in this interview, as Megan has taken part in Crohn's and Colitis Foundation's Day on the Hill twice.The song Megan selected is You Will Be Found from the Broadway musical Dear...2024-07-1735 min
On One ConditionEpisode 40: Barak Kassar - ICE SyndromeBarak has an extremely rare eye condition called ICE (Iridocorneal Endothelial) Syndrome. Because of this condition, he also developed glaucoma in one eye. In this episode, we talk about Corneal transplants, glaucoma and how to care for your eyes, but also about the advancement of technology and AI as a tool for people with partial vision impairment. Barak selected a full album, Cowboy Carter by Beyonce. 2024-07-0336 min
On One ConditionEpisode 39: Lauren McDermott - Stiff Person SyndromeStiff Person Syndrome (SPS) is a rare condition that leads to painful muscle spasms. Lauren believes she had her first symptoms in early 2010s, although she was only diagnosed 5 years ago. She explains how the condition affects her body and her mobility. She also shares the impact it has had on her mental health and how she manages her energy levels to keep SPS at bay as best as she can. The song Lauren chose is It was a good day by Ice Cube. 2024-06-1943 min
On One ConditionEpisode 38: Mandolen Mull - DystoniaMandolen Mull suffers from Crohn's Disease and Dystonia. This episode is focused on the latter, which is characterized by muscular spasm and abnormal posture, usually from a neurological origin. In Mandolen's case, it could have resulted in reduced mobility and difficulty to speak, but she was able to recover almost fully by going through various therapies. Her condition is exacerbated by stress, and she constantly has to manage her stress levels to keep control of her body. In this interview, Mandolen shares how she was able to leverage her brain plasticity to recreate functional neural pathways.The...2024-06-0541 min
On One ConditionEpisode 37: Dionne Stalling - SBS & PPPDIn this 2-part series with Dionne Stalling, we focus on four of the nine conditions that affect her. In part 2, we talk about short bowel syndrome (SBS) and persistent postural perceptual dizziness (PPPD). Beyond discussing the symptoms and how the conditions affect Dionne, we address some important topics in this episode, such as the continuous fight to increase the breadth of what is covered by newborn screening, the challenges of having a restrictive diet and the under-representation of minorities in clinical trials. The song that Dionne chose for this episode is Easy by The Commodores.2024-05-2232 minOn One ConditionEpisode 36: Dionne Stalling - PI & CIDPIn this 2-part series with Dionne Stalling, we focus on four of the nine conditions that affect her. In part 1, we talk about primary immunodeficiency and chronic inflammatory demyelinating polyneuropathy. In Dionne's case, both conditions are linked and she shares how. Dionne is a single mum who has had to juggle with a lot of doctor's appointments whilst raising her two children. She opens up about the toll living with rare diseases has had on her family. We also talk about patient advocacy and the organization she created, Rare and Black.The first song Dionne s...2024-05-0835 min
On One ConditionEpisode 35: Rachel Vanni - GA2Rachel's daughter, Charlie, was born with the rare condition GA2 (Glutaric Aciduria type 2). It was identified very early on thanks to newborn screening, but unfortunately it has a very poor prognosis when diagnosed so early. We talk about how GA2 affected Charlie, the importance of communities for parents dealing with such conditions, and the benefits of grief counseling. Rachel also shares the beautiful life lesson Charlie has taught her.The song Rachel selected is I reach for the sky by Social Distortion.2024-04-2431 min
On One ConditionEpisode 34: Danielle Drachmann - Ketotic HypoglycemiaDanielle's journey with idiopathic pathological ketotic hypoglycemia started with her children's diagnosis, although she had it from a young age herself, but was mis-diagnosed. In this interview, we talk about how this rare disease affects her body. She describes the complexity of raising children with a strict diet, where food intake becomes source of anxiety for parents and child. We also discuss the impact patient advocates have in our world, and her contribution to an initiative by the European Parliament. The song that Danielle chose is Nothing Else Matters by Metallica.2024-04-1038 min
On One ConditionEpisode 33: Natalie Hayden - Crohn's DiseaseCrohn's Disease is extremely unpredictable, and very hard to manage. Natalie was diagnosed with it just as her career was about to start. She didn't let it stop her; she decided to follow her dream of becoming a TV anchor no matter what. It wasn't that easy. She recounts episodes of great struggle and how difficult it is to manage the pain linked to Crohn's. Though the disease has shaped who she is, it does not define her. The song Natalie chose is Swim by Jack's Mannequin.2024-03-2741 min
On One ConditionEpisode 32: Gary Ho - GoutGary suffered from Gout for 16 years before getting a diagnosis. The disease affected him so badly that he had to walk with crutches. He shares how he advocated for himself to finally get a diagnosis and the positive impact it had on his life. We also discuss how to prevent Gout flares, through diet and medication. This episode is very personal for me, as I also suffer from Gout. I share my own experience, which is very different to Gary's. The song that Gary chose is Hi Ren by Ren. 2024-03-1344 min
On One ConditionEpisode 31: David Hogan - Cowden SyndromeDavid had confirmation of his diagnosis of Cowden Syndrome after his mum passed away with the same condition. David talks about isolation after being diagnosed, and the urge he felt to do something for the rare disease community. He now leads a group open to all men with rare disease, focused on mental health. Through this, he provides a platform for men to open up, or listen to others. The song David chose is Dream Baby Dream by Bruce Springsteen.2024-02-2825 min
On One ConditionEpisode 30: Richie Kahn - Wolfram & Charles Bonnet SyndromesRichie has a genetic condition called Wolfram Syndrome. The main symptom is a progressive optic atrophy that results in partial loss of sight in Richie's case. In conjunction with the loss of sight, he developed Charles Bonnet Syndrome, which causes his brain to see images that are not there, also known as hallucinations. Richie shares his journey with both syndromes and the loss of sight that has led him to purchase a white cane shortly before the interview. We talk about his involvement with the Glaucoma community and how important it is for him and others to share about...2024-02-2152 min
On One ConditionEpisode 29: Sabina Kineen - Fabry DiseaseSabina's dad was the first in her family to be diagnosed with Fabry Disease, which is hereditary. Sabina and her sisters were all diagnosed with it shortly after, but there was little known about it at the time, in the early 80s. We talk about the many symptoms that are related to Fabry, including ones affecting mental health. Sabina also shares about the guilt that people can feel with inherited diseases, when it is passed on to their children.The song Sabina selected is We are family by Sister Sledge.2024-02-1435 min
On One ConditionEpisode 28: Sara Brebbia Dirksen - NF1Sara had never heard of Neurofibromatosis (NF) before her son, August, was diagnosed with NF1. She has now become very knowledgeable about this condition, and she raises her voice to increase awareness of this rare disease. Sara shares how NF1 has rocked their world, between hospital appointments, hormonal treatments and trying to turn a rare disease into something to be proud of for August. With such a progressive disease, their journey is not over, but I am hopeful that patient advocates like Sara are paving the path to a treatment. The song that Sara chose is Never g...2024-02-0738 min
On One ConditionEpisode 27: MarlaJan Wexler - LupusMJ has had lupus for many years and it sent her to the emergency rooms many times before she got her diagnosis. In this discussion, we get a feel for how she was impacted by the gaslighting within the healthcare system and the lack of support at home. MJ talks about the symptoms of lupus and how the auto-immune disease affects her body. We also discuss patient advocacy and how meaningful it is for MJ to share with the community. The song MJ selected is Walk by Foo Fighters.2024-01-2444 min
On One ConditionEpisode 26: Cathy Molohan - Parkinson's DiseaseWe talk about Clinical Trials a lot in this episode. Cathy is passionate about getting patients involved in the design of trial protocols, as well as advancing research in Parkinson's Disease. She shares her frustration with the lack of advancement in stopping the disease progression, considering Levodopa is still the treatment of choice more than 60 years after its first use in Parkinson's patients. We discuss the difficulty of defining the right end point for trials targeting PD, as patients can have very different symptoms. Cathy also talks about the deep brain stimulation procedure she went through to help control...2024-01-1041 min
On One ConditionEpisode 25: Joanna Berthelot - PerimenopauseMy wife, Joanna, has been perimenopausal for several years. In this interview, we talk about the effect it had on her mental health and her body, and how she knew it was perimenopause. She shares her decision process when she was offered to take HRT (hormone replacement therapy), despite the stigma and risks that are related to it. We also talk about lifestyle changes that can help with perimenopause. Joanna emphasizes the need to raise awareness about perimenopause and the importance of talking about it, at home or more broadly. The song Joanna chose is I wanna d...2023-12-2729 min
On One ConditionEpisode 24: Mark Duman - Type 2 DiabetesMark raises critical questions about prevention in this interview, as Type 2 Diabetes can be prevented. He talks about his relationship with food and the changes he has made to his diet since his diagnosis. We discuss how the healthcare system addresses Type 2, focusing on the symptoms rather than the root cause of those symptoms. Mark shares his recommendations on lifestyle changes that can help prevent Type 2 Diabetes, in his fight to increase prevention of the disease. Mark selected two songs: Sympathy for the Devil by the Rolling Stones and We are family by Sister Sledge. 2023-12-1339 min
On One ConditionEpisode 23: Bianca Simms - Rett SyndromeBianca is the mother of Lotta, who was born with Rett Syndrome. In this discussion, Bianca shares about her daughter's diagnosis, the lack of support when they received this life-changing information, and how they have adapted to it. We discuss the level of care Lotta requires and the impact on the family life. Bianca also shares the many emotions she has felt over the years, as she went through this journey with her daughter, and how caring for her has changed her. The song Bianca chose is Easy Little Song by A.J. Jenkins.2023-11-2941 min
On One ConditionEpisode 22: Kristy Taylor - AtaxiaAtaxia is a group of disorders that affect the muscles, impacting co-ordination, balance and speech. Kristy saw it affect her family before being diagnosed herself. It was hard for her to accept the diagnosis and she explains that she withdrew from society for many years, until she finally thought to herself: "no surrender". She talks about what she does now to raise awareness about ataxia and to support others who may go through a similar journey to hers. The song Kristy chose is Defiant by VNV Nation.2023-11-1532 min
On One ConditionEpisode 21: Brooke Eby - Amyotrophic Lateral SclerosisBrooke was 29 when she had the first symptoms of Amyotrophic Lateral Sclerosis, commonly known as ALS. She talks about how the confirmation of her diagnosis impacted her mentally, and how she finally decided to embrace her condition and become a patient advocate. Brooke's condition does not progress as fast as it typically does, although she is fully aware that it keeps progressing. She has a positive attitude, raising awareness and advocating for people living with ALS. The song Brooke chose is Kokomo by The Beach Boys.2023-11-0139 min
On One ConditionEpisode 20: Alex Goonesinghe - Cornelia de Lange SyndromeAlex is Niko's dad, a 7-year old boy living with Cornelia de Lange Syndrome. In this first interview of a parent on the podcast, we talk about the worry as a parent when the fetus does not develop as expected. Alex shares about Niko's development after birth, the impact of the condition on Niko's body and the level of care they give him to make sure he grows as healthily as possible. We also discuss how Alex and his family communicate with Niko, considering he is non-verbal. The song Alex selected is Nirvana's interpretation of Where did y...2023-10-1849 min
On One ConditionEpisode 19: Hawken Miller - Duchenne Muscular DystrophyHawken Miller lives with Duchenne Muscular Dystrophy. He has been a patient advocate for several years, raising awareness alongside the organization his parents founded, CureDuchenne. In this interview, Hawken talks about the impact of Duchenne on his body, how he still managed to take part in activities as he was growing up, and his hopes for future treatments to reduce the condition's progress. He also explains how CureDuchenne plays a crucial part in discovering new treatments for patients living with Duchenne. The song Hawken chose is Clocks by Coldplay.2023-10-0436 min
On One ConditionEpisode 18: David Rose - Occipital Horn SyndromeOccipital Horn Syndrome is an extremely rare disease. David Rose is only aware of a few people living with this condition. It took him many years to be diagnosed accurately, although he had been told early on that his condition was similar to Ehlers Danlos Syndrome (EDS)*. In our discussion, David shares tips about how to look after your mental health and how to stay active when you have a rare disease. We also talk about the importance of communities, which have become more accessible through social media. The song David chose is Mr Brightside by The K...2023-09-2043 min
On One ConditionEpisode 17: Levi Peterson - IIH, Behcet's Disease, Parkinson's DiseaseLevi suffers from Idiopathic Intracranial Hypertension (IIH), Behcet's Disease and Parkinson's Disease. In this interview, she shares about the multiple brain surgeries she has had to address her IIH and how it led to developing Parkinson's Disease. We also talked about the complexity of getting a diagnosis for Behcet's Disease, and how having three conditions impacts her ability to get a treatment that is effective. The song Levi chose is Celestial by Ed Sheeran.2023-09-0644 min
On One ConditionEpisode 16: Liz Ferguson - NarcolepsyNarcolepsy is one of those conditions that people know about, mostly because media have emphasized the extreme cases where people fall asleep in the middle of a conversation. In this interview, Liz Ferguson explains that Narcolepsy is a scale that affects people differently. She shares about having cataplectic attacks that led her to her diagnosis. We also talk about how she has adapted to the condition both at work and in her day-to-day life. The song Liz chose is Time is running out by Muse2023-08-2332 min
On One ConditionEpisode 15: Emily Hu - ADHD & DepressionFor this interview, Emily was lying down in bed, in a room barely lit. It was important that she found a comfortable position, which would mean she wouldn't feel the need to move. We talk about how ADHD affects her and how she manages her work around it. We also discuss depression and how difficult it was to be diagnosed accurately. Emily shares about not being medicated anymore and why she found it important to not be under medication. The song chosen by Emily is Greatest by Sia.2023-08-0929 min
On One ConditionEpisode 14: Kara Yarnot - Chronic MigrainesKara shares her experience of living with migraines, which can present differently in other people. She explains how her migraines used to be preceded by an aura in the first years. We talked about what she can do to reduce the risk of having a migraine, and the medication she can take to address the symptoms. We also discussed how Kara maintains a working life even when migraines can keep her bed-bound or last for several days. The song Kara selected is Times Like These by Foo Fighters.2023-07-2636 min
On One ConditionEpisode 13: Anjo Den Decker - Multiple SclerosisAnjo was working on clinical trials targeting Multiple Sclerosis (MS) when she was diagnosed with the condition. We talked about her diagnosis and why she took the news relatively well, being close to the science. She also shares how she remains active despite the illness, showing how important it is to know your body when you have a condition such as MS.The song Anjo chose is Wish You Were Here by Pink Floyd. 2023-07-1233 min
On One ConditionEpisode 12: Ella Balasa - Cystic FibrosisElla is a patient advocate for people living with Cystic Fibrosis, a genetic condition that affects the lungs and the digestive system. Ella describes how it impacts her and what she needs to do every day to manage her condition. She shares how she feels about potentially needing a lung transplant in the future, and the implications of this procedure. We also talk about how she turned her experience as a patient into her career, as she helps pharmaceutical companies develop protocols and documents that are more easily understood by patients. The song Ella chose is Forever b...2023-06-2841 min
On One ConditionEpisode 11: Renato Trentin - Haemoglobin BibbaThis is the first time Renato speaks openly about his condition. He was born with an extremely rare disease called Haemoglobin Bibba, which only affects two families in the world as far as he is aware. He talks about going through childhood trying to be like everyone else, and living with a condition that is not well understood. We also discuss the impact on his children and why Renato decided to open up about his condition. The song Renato selected is Sorrento Moon by Tina Arena. 2023-06-1439 min
On One ConditionEpisode 10: Dunstan Nicol-Wilson - Sickle Cell DiseaseSickle cell disease is a genetic condition that can lead to extreme pain. Dunstan shares how it affected him as he grew up, and how it has shaped who he is. Going through therapy helped him accept the disease and made him want to share about it, becoming an advocate for patients with sickle cell. We talk about how working from home makes living with a chronic disease easier to manage, how hospital visits can be traumatic, and the benefits of sharing about your health condition. The song Dunstan chose is Pepas by Farruko.2023-05-3146 min
On One ConditionEpisode 09: Aaron Blocker - HypophosphatasiaAaron had 21 surgeries related to his condition, Hypophosphatasia. He had to do his own research to find a potential diagnosis for himself, before it being confirmed through genetic testing. Aaron shares how the condition affected him as he was growing up. He also talks about what it is like to have a rare disease and how lengthy the diagnosis can be. The song Aaron chose is The only exception by Paramore.2023-05-1738 min
On One ConditionEpisode 08: Dawn Brockett - AnorexiaForget what you believe you know about anorexia and listen to Dawn. She opens a window into the psychology of anorexia. She shares the social pressure she was under as a child, and how it affected her growing up. She explains why she felt like she needed to take as little space as possible. We also discussed what her path to recovery was and what she does to make sure she stays in a psychologically healthy state. The song Dawn selected is What's going on by Marvin Gaye.2023-05-0349 min
On One ConditionEpisode 07: Mackenzie Abramson - Ehlers Danlos SyndromeMackenzie knew something was wrong when two different breaks wouldn't heal properly. However, it took multiple opinions before a doctor recognized the symptoms of Ehlers Danlos Syndrome (EDS). She explains how it affects her body, her energy levels and her mental health. She also talks about two other conditions that affect her, postural orthostatic tachycardia syndrome and chronic fatigue syndrome. The song Mackenzie selected is Fight Song by Rachel Platten.2023-04-1940 min
Le Bar à Pep'sSemaine spéciale Côte d'Azur - NiceAujourd'hui, dans le Bar à Pep's, Sylvain recevait Anne Gilet-Berthelot, de l’agence du tourisme. Ils ont discuté de Nice.
2023-04-0600 min
On One ConditionEpisode 06: Craig Mooney - Sleep ApneaCraig was aware that he might have sleep apnea, but he didn't consider it as a health issue. It's only when he was made aware of a tragic incident linked to sleep apnea that he booked an urgent appointment with his doctors. He talks about what it is like to sleep with a machine and the importance of getting checked if you think you may have sleep apnea.The song Craig chose is Stuck in a moment you can’t get out of by U2.2023-04-0537 min
On One ConditionEpisode 05: Emily Freeman - Psoriatic ArthritisIt took 20 years for Emily to get the right diagnosis of Psoriatic Arthritis, and to get a life-changing treatment. She shares how overwhelming her symptoms can be, preventing her from doing the most simple tasks. She also talks about patient advocacy and how important it is to hear the patient's voice in healthcare.The song Emily selected is That's me by Tara Maclean.2023-03-2231 min
On One ConditionEpisode 04: Seth Rotberg - Huntington's DiseaseSeth saw how Huntington's Disease (HD) affected his mum and impacted his family. He talks about going through genetic testing aged 20 and the lack of mental health support when being told he also had HD. Whilst he may not experience symptoms yet, he shares his eagerness to take part in clinical trials, and his frustration with the pharmaceutical industry not offering trials for pre-symptomatic HD patients.The song Seth chose is Feel So Close by Calvin Harris.2023-03-0843 min
On One ConditionEpisode 03 - Alex Wisch - DepressionAlex’s journey with depression is profound. He talks about extremely tough times, multiple hospitalisations and almost taking his own life. His determination is exceptional though, an example of how to overcome your own challenges.The song Alex selected is Dance Monkey by Tones & I.2023-02-2247 min
On One ConditionEpisode 01 - Jay Unwin - FibromyalgiaJay was diagnosed with fibromyalgia in 2020, and he believes he has had this condition for 20 years before being diagnosed. In this episode, we talk about Deftones, how firbomyalgia affects Jay, and how he balances doing what he enjoys in life with the risk of having a flare-up. The music selected by Jay is the album White Poney by Deftones. 2023-01-2545 min
On One ConditionEpisode 02 - Emily Epstein - BRCA gene mutationEmily discovered that she has the BRCA gene mutation by chance. It has led her to have multiple surgeries to reduce her risks of having breast and ovarian cancer. Through her journey, Emiliy has realized that the healthcare system does not provide the support patients need. She now advocates for more support for patients within the healthcare industry.I apologize for mispronouncing BRCA. By listening to Emily, I now know how to pronounce it!The song Emily chose is Two for the road by Henry Mancini.2023-01-2542 min
Note to File: A Clinical Research PodcastSylvain Berthelot, CalyxSylvain Berthelot is the Senior Voice of Customer & Stratefy Director at Calyx, one of the leaders in eClinical and Regulatory technology. In his role, Sylvain aims to transform customer feedback into insights and decisions that will positively impact trial teams, sites and patients. Sylvain has assumed various roles during his 12+ years at Calyx, and he consistently kept his focus on reducing burden for sites and patients. He is the host of the podcast Calyx Café, where industry experts talk about clinical research trends, futurology, and best practices to reliably solve the complex in clinical trials T...2022-11-1640 min
Jazz And CoMusiques Re Belles c’est reparti 08.10.18Musiques Re Belles c’est reparti pour la deuxième année consécutive. La seconde édition du festival aura lieu entre les 18 et 20 octobre à Montreuil au théâtre Berthelot. Comme l’an dernier des figures historiques du jazz français croiseront la route de musiciens plus récents: Bruno Tocane, Jacques Coursil, Daunik Lazro, Sylvain Kassap etc. Nous sommes à nouveau partenaires et pour l’occasion nous recevons la musicienne Emmanuelle Parrenin et Théo Jarrier co organisateur du festival pour évoquer la programmation de cette année et se souvenir de l’édition de l’an dernier.
En seconde heure nous nous attardon...2018-10-0344 minJazz And CoMusiques Re Belles c’est reparti 08.10.18Musiques Re Belles c’est reparti pour la deuxième année consécutive. La seconde édition du festival aura lieu entre les 18 et 20 octobre à Montreuil au théâtre Berthelot. Comme l’an dernier des figures historiques du jazz français croiseront la route de musiciens plus récents: Bruno Tocane, Jacques Coursil, Daunik Lazro, Sylvain Kassap etc. Nous sommes à nouveau partenaires et pour l’occasion nous recevons la musicienne Emmanuelle Parrenin et Théo Jarrier co organisateur du festival pour évoquer la programmation de cette année et se souvenir de l’édition de l’an dernier.
En seconde heure nous nous attardon...2018-10-0300 minJazz And CoLa rentrée de Jazz And Co // 04.09.17Rentrée ou pré-rentrée pour l’équipe de Jazz And Co? En tous cas nous sommes de retour mais toujours sur l’horaire d’été. Aurions-nous pu laisser de côté notre inssassiable intérêt pour la musique pendant nos quartiers d’été? Non bien entendu. Du coup Philippe vous a ramené la guitarra portuguesa, Pierre est parti à la découverte du jeune pianiste Enzo Carniel et de son groupe House of Echo. Martin a déniché avec même une longueur d’avance sur Gilles Peterson, quelques manipulateurs de sons et de rythmes inspirés par Sun Ra. Enfin Olivier vous dé...2017-09-0700 minJazz And CoLa rentrée de Jazz And Co // 04.09.17Rentrée ou pré-rentrée pour l’équipe de Jazz And Co? En tous cas nous sommes de retour mais toujours sur l’horaire d’été. Aurions-nous pu laisser de côté notre inssassiable intérêt pour la musique pendant nos quartiers d’été? Non bien entendu. Du coup Philippe vous a ramené la guitarra portuguesa, Pierre est parti à la découverte du jeune pianiste Enzo Carniel et de son groupe House of Echo. Martin a déniché avec même une longueur d’avance sur Gilles Peterson, quelques manipulateurs de sons et de rythmes inspirés par Sun Ra. Enfin Olivier vous dé...2017-09-0744 min
Le rendez-vous JeuxLe RDV Jeux 43 - gamescom 2016Au programme :L'essentiel de la gamescom 2016Zenimax attaque Oculus, le "Steam" de Facebook, la PS4 Slim...Nos impressions sur No Man's Sky et Deus Ex: Mankind DividedEt plus !Plus d'infos sur l'épisode :Les animateurs sont JK Lauret (@jklauret), Sylvain Tastet (@_Hoopy) et Patrick Beja (@NotPatrick).Le générique est de Daniel Beja (@misterdanielb). Sa musique libre de droit est sur MusicInCloud.fr.La mise en ligne est assurée par Florent Berthelot (@Aeden_).Commentez cet épisode et retrouvez d'autres émissio...2016-08-291h 53
Le rendez-vous JeuxLe rendez-vous Jeux 16 - Taylor Swift vs BatmanAu programme :Batman Arkham Knight et ses soucisMicrosoft à la gamescomSony parle de (trop?) gros chiffresStarwars partout, The Last of Us 2, le coin Kickstarter...Et plus encore...Plus d'infos sur l'épisode :Les animateurs sont JK Lauret (@JKlauret), Sylvain Tastet (@_Hoopy) et Patrick Beja (@NotPatrick).Le générique est de Daniel Beja (@misterdanielb). Sa musique libre de droit est sur MusicInCloud.fr.La mise en ligne est assurée par Florent Berthelot (@Aeden_).Commentez cet épisode et retrouvez d'autr...2015-07-061h 22
Le rendez-vous JeuxLe rendez-vous Jeux 11 - Un peu trop gamerAu programme :Le Nintendo Direct Un YouTuber énervé contre Nintendo Le marketing du Free to Play mobile Une fille de 12 ans parle des Endless Runners Mobius Final Fantasy, Deus Ex: Mankind Divided, Lego Dimensions, Yokai Watch, The Witcher 3... En bonus: Bloodborne, impressions Et bien plus encore !Plus d'infos sur l'épisode :Les animateurs sont JK Lauret, Sylvain Tastet et Patrick Beja. Le générique est composé par Daniel Beja. Retrouvez sur Music in Cloud sa musique libre de droit. La mise en ligne est assurée par Florent Berthelot. Hébergé pa...2015-04-132h 00
Le rendez-vous JeuxLe rendez-vous Jeux 6 - Un poulpe chez EAAu programme :Les résultats de Nintendo et Microsoft La PS4 édition anniversaire à 130.000 dollars La Chine et les consoles Madden et le SuperBowl La GeForce GTX 960 Le DLC fonctionne (chez EA) Le workshop de Steam fait des fortunes Les annonces gaming de Microsoft L'EVO 2015 arrive Et bien plus encore...Plus d'infos sur l'épisode :Les animateurs sont Sylvain Tastet, JK Lauret et Patrick Beja. Le générique est composé par Daniel Beja. Retrouvez sur Music in Cloud sa musique libre de droit. La mise en ligne est assurée par Florent...2015-02-022h 01